2000例孕中期唐氏综合征的筛查分析

Screening analysis of Down syndrome in 2000 cases on middle period pregnancy

目的 :探讨孕中期筛查唐氏综合征 (Downsyndrome,DS)的临床意义。方法 :对 2 0 0 0例孕中期孕妇血清进行AFP和β hCG两项指标的筛查。 结果 :2 0 0 0例中 ,DS高风险 1 40例 ,筛查阳性率 7%。DS高风险 1 40例中 40例做了产前诊断 ,发现 1例常染色体 3号、4号相互易位 ,1例 9号染色体臂间倒位 ,1例Y染色体长臂缺失。 1 6例神经管缺陷(hervoustubedefect,NTD)高风险 ,占筛查总数的 0 .8% ,其中 5例晚期流产。结论 :对孕期母血清筛查是预防DS患儿出生的重要途径。

Objective:To explore the clinical signifiance to screening analysis of Down syndrome on middle period pregnancy.Method:Middle period pregnance serum of mothers' AFP and β hCG was performed in 2000 cases.Results:140 cases with high risk of Down Syndrome(DS) were found.The positive rate is 7%.There were 40 cases to be done prenatal diagnosis in 140 cases and found 1 case with chromosome translocation,t(3;4),1 case with invert(9),1 case with Yq .There were 16 cases with high risk of nervous tube defect(NTD)in 0.8%,and there were 5 cases with late abortion in the 16 cases.Conclusions:Screening analysis of middle period pregnancy serum is a major way to prevent DS.Pregnant women with high risk of DS should especially do prenatal diagnosis.